Evolutionary and medical consequences of archaic introgression into modern human genomes
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Abstract
The demographic history of anatomically modern humans (AMH) involves multiple migration events, population extinctions and genetic adaptations. As genome-wide data from complete genome sequencing becomes increasingly abundant and available even from extinct hominins, new insights of the evolutionary history of our species are discovered. It is currently known that AMH interbred with archaic hominins once they left the African continent. Current non-African human genomes carry fragments of archaic origin. This review focuses on the fitness consequences of archaic interbreeding in current human populations. We discuss new insights and challenges that researchers face when interpreting the potential impact of introgression on fitness and testing hypotheses about the role of selection within the context of health and disease.
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Archaic Hominin Introgression in Africa Contributes to Functional Salivary MUC7 Genetic Variation
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Archaic Lineages in the History of Modern Humans
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Paleogenomics of Archaic Hominins
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Meiotic Genes Are Enriched in Regions of Reduced Archaic Ancestry
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Living in an adaptive world: Genomic dissection of the genus Homo and its immune response
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Estimating the Ages of Selection Signals from Different Epochs in Human History
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Ancient Evolution and Dispersion of Human Papillomavirus 58 Variants
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A Bayesian method for jointly estimating allele age and selection intensity
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Ancient humans and the origin of modern humans
Kelso, J. F., & Prüfer, K. (2014) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2014.09.004 · Cited by 32 · see citing works
Inferring Selection Intensity and Allele Age from Multilocus Haplotype Structure
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Neanderthal and Denisova tooth protein variants in present-day humans
Zanolli, C., Hourset, M., Esclassan, R., & Mollereau, C. (2017) · PLoS ONE · doi:10.1371/journal.pone.0183802 · Cited by 23 · see citing works
Health status by gender, hair color, and eye color: Red-haired women are the most divergent
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“However, whatever the potential benefits of archaic introgression in the past, alleles of Neanderthal origin have been also associated with several neurological, dermatological, and immunological phenotypes, indicating an influence of ancient admixture on current disease risk in humans (Mozzi et al., 2017; Simonti et…”
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Variation and Functional Impact of Neanderthal Ancestry in Western Asia
Taşkent, R. Ö., Alioğlu, D., Fer, E., Dönertaş, H. M., Somel, M., & Gökçümen, Ö. (2017) · Genome Biology and Evolution · doi:10.1093/gbe/evx216 · Cited by 18 · see citing works
Human Evolution: Genomic Gifts from Archaic Hominins
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Immunité innée et maladies chez l’homme
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Evolutionary and Medical Consequences of Archaic Introgression into Modern Human GenomesPreprint
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The Exposome in Human Evolution: From Dust to Diesel
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Denisovan introgression has shaped the immune system of present-day Papuans
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“Several lines of evidence highlight associations between archaic DNA and risk for disease traits, including autoimmune diseases [12,13], or with traits of possible evolutionary advantage for early non-Africans [14,15].”
Inferring archaic introgression from hominin genetic data
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<i>DLX5/6</i> GABAergic Expression Affects Social Vocalization: Implications for Human Evolution
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“There is increasing interest to decode the biological, phenotypic, and medical consequences of Neanderthal legacy in the modern human genome (Simonti, et al. 2016; Dolgova and Lao 2018; Rotival and Quintana-Murci 2020).”
BackgroundPredicting Archaic Hominin Phenotypes from Genomic Data
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Nutrigenomics in the context of evolution
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Facilitated introgression from domestic goat into Alpine ibex at immune loci
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WHAT CAN EARTH HISTORY AND EVOLUTION TELL ABOUT THE CREATOR OF THE UNIVERSE?
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Medicine in the Light of Evolution
Dolgova, O., & Lao, Ó. (2018) · Genes · doi:10.3390/genes10010003 · Cited by 9 · see citing works
Self-citationDenisovan introgression has shaped the immune system of present-day PapuansPreprint
Vespasiani, D. M., Jacobs, G. S., Cook, L. E., Brucato, N., Leavesley, M., Kinipi, C., Ricaut, F., Cox, M. P., & Romero, I. G. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.07.09.196444 · Cited by 8 · see citing works
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Since when have humans had a soul?
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Disentangling archaic introgression and genomic signatures of selection at human immunity genes
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Self-citationWhy Do Some Humans Have Neanderthal DNA?
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Buried Treasure? Overlooked and Newly Discovered Evolutionary Contributions to Human Brain Diseases
Diederich, N. J., Brüne, M., Allen, J. S., Bender, N., Bruner, E., Changeux, J., Calì, C., Dolgova, O., Grünewald, A., Konopka, G., et al. (2025) · Annals of Neurology · doi:10.1002/ana.78030 · Cited by 1 · see citing works
Self-citationNo Homo: Why Theistic Evolution Fails
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RetractedAdaptive Archaic Introgression
Dolgova, O., & Lao, Ó. (2024) · doi:10.1093/med/9780197676592.003.0007 · Cited by 1 · see citing works
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Geny archaicznych ludzi w genomie człowieka współczesnego a pandemia COVID-19
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- Authors
- Dolgova, O., & Lao, O.
- Affiliations
- Centro Nacional de Análisis Genómico (ES)
- Population Genomics Group, Centre Nacional d’Anàlisi Genòmica, Centre de Regulació Genòmica (CRG-CNAG), Parc Científic de Barcelona, Baldiri Reixac 4, 08028 Barcelona, Catalonia, Spain
- Corresponding author
- Dolgova, Olga
- ORCID
- Dolgova, Olga
- Venue
- Genes
- Publisher
- MDPI AG
- Published
- 2018-07-18
- Volume
- 9
- Issue
- 7
- Pages
- 358
- ISSN
- 2073-4425 (ISSN-L)
- PMC
- PMC6070777
- OpenAlex
- W2809495114
- Cited by
- 34
- References
- 116
- Citations by year
- 2025: 1 · 2024: 4 · 2023: 6 · 2022: 4 · 2021: 8 · 2020: 3 · 2019: 6 · 2018: 2
- FWCI
- 3.64
- Type
- journal article
- Language
- en
- Open access
- gold
- dx.doi.org
- Licence
- Locations
- Genes (publishedVersion, cc-by)
- Preprints.org (acceptedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Repositori digital de la UPF (Universitat Pompeu Fabra) (submittedVersion, cc-by)
- Funders
- Ministerio de Economía y Competitividad (BFU2015-68759-P)
- Secretaria d’Universitats i Recerca del Departament d’Economia i Coneixement de la Generalitat de Catalunya (GRC 2017 SGR 937)
- MINECO (RYC-2013-14797)
- Topics
- Social Sciences › Anthropology › Pleistocene-Era Hominins and Archaeology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Keywords
- archaic introgression, modern human genomes, archaic humans, Neanderthal admixture, Denisovan admixture, interbreeding, fitness effects, natural selection, disease susceptibility, human evolutionary history, non-African populations
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